解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0200-2
更新日期:2018-09-01 00:00:00
abstract::In the HTML version of this article initially published, the name of author Diletta Di Mitri was miscoded in the XML such that Di was included as part of the given name instead of the family name. The error has been corrected in the HTML version of the article. ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0181-1
更新日期:2018-09-01 00:00:00
abstract::Key challenges for human genetics, precision medicine and evolutionary biology include deciphering the regulatory code of gene expression and understanding the transcriptional effects of genome variation. However, this is extremely difficult because of the enormous scale of the noncoding mutation space. We developed a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0160-6
更新日期:2018-08-01 00:00:00
abstract::In the version of this article originally published, a box was misplaced in Fig. 1. The error has been corrected in the HTML and PDF versions of the article. ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0137-5
更新日期:2018-08-01 00:00:00
abstract::We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a cis-eQTL, over half of which were not found in previous large-scale w...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/s41588-018-0154-4
更新日期:2018-07-01 00:00:00
abstract::The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study ev...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0132-x
更新日期:2018-07-01 00:00:00
abstract::The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0135-7
更新日期:2018-06-01 00:00:00
abstract::Glaucoma is the leading cause of irreversible blindness globally 1 . Despite its gravity, the disease is frequently undiagnosed in the community 2 . Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG)3,4. Here we present a meta-analysis of 139,555 European partici...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/s41588-018-0126-8
更新日期:2018-06-01 00:00:00
abstract::In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0082-3
更新日期:2018-05-01 00:00:00
abstract::DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 addition...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0073-4
更新日期:2018-04-01 00:00:00
abstract::We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions sur...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0081-4
更新日期:2018-04-01 00:00:00
abstract::Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights into the underlying genetics, here we conducted a genome-wide association study (GWAS) of 58 quantitative traits in 162,255 Japanese individuals. Overall, we ident...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0047-6
更新日期:2018-03-01 00:00:00
abstract::Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0046-7
更新日期:2018-03-01 00:00:00
abstract::Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0057-4
更新日期:2018-03-01 00:00:00
abstract::Pioneer transcription factors establish new cell-fate competence by triggering chromatin remodeling. However, many features of pioneer action, such as their kinetics and stability, remain poorly defined. Here, we show that Pax7, by opening a unique repertoire of enhancers, is necessary and sufficient for specification...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-017-0035-2
更新日期:2018-02-01 00:00:00
abstract::TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-017-0002-y
更新日期:2018-01-01 00:00:00
abstract::Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-017-0012-9
更新日期:2017-12-18 00:00:00
abstract::The CRISPR-Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3994
更新日期:2017-11-29 00:00:00
abstract::Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3958
更新日期:2017-11-01 00:00:00
abstract::Human-derived tumor models are becoming popular in the context of personalized medicine, but a new study shows that these models could be less representative of primary tumors than previously thought, particularly when using late passages. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3983
更新日期:2017-10-27 00:00:00
abstract::A major challenge in inflammatory bowel disease (IBD) is the integration of diverse IBD data sets to construct predictive models of IBD. We present a predictive model of the immune component of IBD that informs causal relationships among loci previously linked to IBD through genome-wide association studies (GWAS) usin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3947
更新日期:2017-10-01 00:00:00
abstract::To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CH...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3943
更新日期:2017-10-01 00:00:00
abstract::Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosyno...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3939
更新日期:2017-10-01 00:00:00
abstract::A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at GDF5 in modern humans, as well as in archaic Neandertals and Denisovans. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3924
更新日期:2017-07-27 00:00:00
abstract::Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis ...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.3892
更新日期:2017-07-01 00:00:00
abstract::The mammalian TET enzymes catalyze DNA demethylation. While they have been intensely studied as major epigenetic regulators, little is known about their physiological roles and the extent of functional redundancy following embryo implantation. Here we define non-redundant roles for TET1 at an early postimplantation st...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3868
更新日期:2017-07-01 00:00:00
abstract::Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3878
更新日期:2017-07-01 00:00:00
abstract::Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major su...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3847
更新日期:2017-06-01 00:00:00
abstract::N6-methyldeoxyadenine (6mA) is a noncanonical DNA base modification present at low levels in plant and animal genomes, but its prevalence and association with genome function in other eukaryotic lineages remains poorly understood. Here we report that abundant 6mA is associated with transcriptionally active genes in ea...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3859
更新日期:2017-06-01 00:00:00
abstract::The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional mutagenesis screen in mice, which was designed for the discovery of Pten-cooperating tumor supp...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3817
更新日期:2017-05-01 00:00:00
abstract::Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3840
更新日期:2017-05-01 00:00:00
abstract::Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3789
更新日期:2017-04-01 00:00:00
abstract::A study of genetic variation in yeast has identified key quantitative trait loci (QTLs) that suppress the effects of variation at multiple other loci. These loci prove essential to accurately modeling yeast growth in response to different environments. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3829
更新日期:2017-03-30 00:00:00
abstract::Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3771
更新日期:2017-03-01 00:00:00
abstract::Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin stat...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3798
更新日期:2017-02-24 00:00:00
abstract::To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3761
更新日期:2017-02-01 00:00:00
abstract::A CRISPR screen conducted in a CD4+ T cell leukemia line has identified host factors required for HIV infection but dispensable for cellular survival. The results highlight sulfation on the HIV co-receptor CCR5 and cellular aggregation as potential targets for therapeutic intervention. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3777
更新日期:2017-01-31 00:00:00
abstract::Metastasis is the leading cause of death in people with lung cancer, yet the molecular effectors underlying tumor dissemination remain poorly defined. Through the development of an in vivo spontaneous lung cancer metastasis model, we show that the developmentally regulated transcriptional repressor Capicua (CIC) suppr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3728
更新日期:2017-01-01 00:00:00
abstract::Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyot...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3720
更新日期:2017-01-01 00:00:00
abstract::A genome-wide study of fasting insulin, HDL cholesterol and triglycerides, designed to depict insulin resistance, identified 53 independent loci associated with a limited capacity to store fat in a healthy way. The increased power of this multitrait approach provides insights into an otherwise difficult-to-grasp pheno...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3758
更新日期:2016-12-28 00:00:00